HYKK (hydroxylysine kinase)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
123688
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxylysine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HYKK
Synonyms (NCBI Gene) Gene synonyms aliases
AGPHD1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005759 Component Mitochondrial matrix TAS
GO:0006554 Process Lysine catabolic process TAS
GO:0016301 Function Kinase activity IEA
GO:0016740 Function Transferase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614681 34403 ENSG00000188266
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID A2RU49
Protein name Hydroxylysine kinase (5-hydroxy-L-lysine kinase) (EC 2.7.1.81) (Aminoglycoside phosphotransferase domain-containing protein 1)
Protein function Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01636 APH 36 → 297 Phosphotransferase enzyme family Family
Sequence
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Lysine degradation
Metabolic pathways 		  Lysine catabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Heart Failure Heart failure N/A N/A GWAS
Intracranial Aneurysm Intracranial aneurysm N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 24686516
Adenocarcinoma of Lung Associate 20554942, 24686516
Carcinoma Non Small Cell Lung Associate 19641473, 24518713
Emphysema Associate 24563194
Glycogen Storage Disease Type IV Associate 23349703
Lung Neoplasms Associate 18385676, 18780872, 19300482, 19641473, 20056643, 20548021, 20554942, 20587604, 21697764, 21966413, 22028403, 22306564, 22430809, 23454887, 25999661
View all (1 more)
Melanoma Associate 27344179
Pulmonary Disease Chronic Obstructive Associate 19300482, 21232152, 22356581, 22438921, 22461431, 23299987, 23349703, 27323020, 29422661
Tobacco Use Disorder Associate 21232152
Urinary Bladder Neoplasms Associate 21081471